Robertsonian translocations: description, fasali da kuma halaye na

A gaba dayan girma kayyade kayan rajista a duk 46 nau'i-nau'i daga chromosomes. A chromosome aka sani daga ilmin halitta, a samu a cikin cell tsakiya. A lafiya mutum yana da wani karyotype na 23 nau'i-nau'i daga diploid chromosomes. Wannan shi ne 46 XX - chromosome kafa mata da kuma 46 XY - namiji sa na chromosomes. A lokacin da ka karya duk wani daga cikin chromosome, da asali "mai ɗaukar" na kwayoyin code, daban-daban iri keta faruwa.

Maye gurbi ne ba musamman ga mutane. Kananan canje-canje a kayyade kayan taimako zuwa ga bambancin da bayyananen yanayi. A cikin abin da ake kira daidaita chromosomal translocation canji yakan faru ba tare da wani asarar bayanai da kuma ba tare da dole ba kwafi. Mafi sau da yawa wannan ya faru a lokacin meiosis (chromosome division), a Bugu da kari, wani lokacin da wani ɓangare na chromosomes na ninninkuwa (kwafi auku), sa'an nan da sakamakon ne unpredictable. Amma za mu yi la'akari kawai Robertsonian translocations, su halaye da kuma effects.

Robertsonian translocation - abin da yake da shi? Halitta matsaloli daga mutãne

Saboda katsewa na chromosome kusa da centromere akwai tsarin canje-canje a cikin mutum kayyade code. A rata iya zama guda, amma shi da ya faru da kuma sake. Daya hannu na chromosome bayan hutu (yawanci short hannu) da aka rasa. Amma zo fadin lokuta inda hutu na faruwa lokaci guda a 2 chromosomes, short makamai wanda ake swapped. Wani lokaci, su ne batun translocation kawai sassa na kafada. Amma irin wannan gajeren makamai na acrocentric chromosomes a cikin irin (inda centromere raba chromosome a kan wani dogon da kuma gajeren makamai) ba kawo muhimmanci bayanai. Bayan da asarar irin wannan abubuwa ne ba haka muhimmanci saboda hereditary abu ne kofe zuwa sauran acrocentric chromosomes.

Amma lokacin da rabu da gajeren hannu Fused tare da gajeren makamai na wani gene, da kuma sauran tsawon aka kuma soldered da juna, irin wannan translocation daina daidaita. Irin wannan "rearrangement" kayyade abu - wannan shi ne wani Robertsonian translocation.

Na gudanar da bincike da kuma bayyana irin wannan translocation W. Robertson a 1916. Da kuma sunansa da aka kira da kuma wani anomaly. Robertsonian translocation iya kai ga ci gaban da cutar daji, amma ba zai shafi bayyanar da kiwon lafiya na m. Duk da haka, da yaro a mafi yawan lokuta, idan iyaye daya tana da translocation, haife dake da nakasa.

Yadda kowa maye gurbi?

Saboda ci gaba a fasaha da kuma ci gaban jinsi a matsayin kimiyya, a yau yana yiwuwa ya sani a gaba idan akwai munanan a karyotype na haifa ba. Shi ne yanzu zai yiwu a gudanar da wani statistics: sau nawa akwai kwayoyin anomaly? Kamar yadda yanzu bayanai, Robertsonian translocations faruwa a daya daga dubu jariri. Mafi sau da yawa bincikar lafiya translocation na chromosome 21.

Kananan chromosomal translocation ne babu albarkacin barazana ga ta mai bãyar. Amma lokacin da shi rinjayar da muhimmanci abubuwa na code, da yaro zai iya kasance mũshe kõ suka mutu a cikin 'yan watanni, kamar, misali, al'amarin da da ciwo Patau. Amma Patau ciwo ya auku sosai da wuya. Wani wuri 1 a 15,000 kowacce haihuwa.

Abubuwan Gudunmawa zuwa fitowan da wani translocation a chromosomes

A yanayi, akwai maras wata-wata maye gurbi, watau, unprovoked. Amma yanayi sa da kansa sabawa ga ci gaban genome. Da dalilai da dama taimakawa wajen mafi m mutational canje-canje. Wadannan dalilai ake kira mutagenic. Da aka sani da wadannan dalilai:

• tasiri nitrogenous sansanonin.
• dan hanya DNA biopolymers.
• na uwa barasa ci a lokacin daukar ciki.
• da tasiri na ƙwayoyin cuta a lokacin daukar ciki.

Mafi na kowa translocation auku saboda da cutarwa sakamakon radiation a jiki. Ana rinjayar ultraviolet radiation, protons da X-haskoki, kuma gamma haskoki.

Wanne ne batun sauya chromosome?

Sha translocation na chromosome 13, 14, 15 da kuma 21. A mafi m da kuma kawo hadari translocation - a Robertsonian translocation tsakanin chromosomes 14 da kuma 21.

Idan a sakamakon meiosis siffofin karin chromosome (trisomy) fetal da irin wannan translocation, da yaro za a haife tare da Down ciwo. A wannan hali ne yiwu idan Robertsonian translocation ya faru tsakanin chromosomes 15 da kuma 21.

Translocation na chromosome band D

Robertsonian translocation chromosome Group D rinjayar kawai acrocentric chromosomes. Chromosomes 13 da kuma 14 da ake da hannu a translocations a 74% na lokuta, kuma aka kira su unbalanced translocations, wanda sau da yawa m aqibar rai ba.

Duk da haka, akwai daya shã'aninku cewa zai iya bi irin anomalies. Robertsonian translocation 13, 14 a cikin maza zai iya kai wa ga sosai takin gargajiya na namiji m (45 xy chromosome sa). Saboda gaskiya cewa, saboda da asarar biyu short makamai maimakon 2 nau'i-nau'i daga chromosomes sau da yawa a can daya ne kawai cewa yana da biyu tsawo, gametes irin wannan mutum ba zai iya ba mai yiwuwa zuriyarsa.

A wannan Robertsonian translocation 13, 14 a cikin mata da kuma na rage ikon da yaro. Monthly akwai irin wannan mata, kuma duk da haka akwai lokuta a lõkacin da suka haihu lafiya yara. Amma da statistics har yanzu nuna cewa shi ne rare. Amma, 'ya'yansu ba mai yiwuwa.

A sakamakon translocations

Mun gano cewa, wasu tsarin canje-canje ne quite al'ada da kuma ba barazana. Robertsonian translocation naúrar aka ƙaddara kawai da bincike. Amma da sake translocation a cikin sa na gaba ƙarni na chromosomes riga m.

Robertsonian translocation 15 da kuma 21 a tare da sauran tsarin canje-canje na iya zama ko da m. Duk da sakamakon wasu tsarin canje-canje a cikin karyotype aka bayyana a cikin mafi daki-daki. Ka tuna cewa karyotype - shi ne muhimmi a cikin mutum sa na chromosomes a tsakiya.

Trisomy da translocation

Bugu da ƙari translocations Genetics ware abnormality kamar wani trisomy chromosome. Trisomy yana nufin cewa fetal karyotype ya kafa daya daga triploid chromosomes maimakon na 2 kofe wani lokacin yakan faru mosaic trisomy. Wannan shi ne triploid sa na lura ba a duk Kwayoyin na jiki.

Trisomy hade tare Robertsonian translocation take kaiwa zuwa sosai tsanani sakamakon: kamar Patau ciwo, Edwards, kuma mafi kowa Down ciwo. A wasu lokuta, da sa na anomalies take kaiwa zuwa ashara a farkon matakai.

Down ta ciwo. bayyananen

Ya kamata a lura da cewa translocation shafe chromosomes 21 da 22 ne mafi barga. Irin wannan anomalies ba m, ba su rabin-na mutuwa, amma kawai ta kai ga raya ci gaban nakasa. Saboda haka, trisomy 21 a hade tare da wani Robertsonian translocation a karyotype a cikin bincike na fetal karyotype - a tabbatar da "alamar" da Down ciwo, wani kwayoyin cuta.

Down ta ciwo ne halin da biyu ta jiki da kuma nakasa. Hasashen na rayuwa daga wadannan mutane shi ne m. Duk da cututtukan zuciya da kuma wasu physiological canje-canje a cikin kwarangwal, kuma su jiki ne aiki kullum.

A halayyar fasali na ciwo:

• fuska faffada.
• kara girman harshe.
• mai yawa da fata a kan wuyansa, za ninka.
• clinodactyly (curvature na yatsunsu).
• epicanthus.
• cututtukan zuciya ne zai yiwu a 40% na lokuta.

Mutane tare da wannan ciwo sannu a hankali fara je, ya ce kalmomin. Kuma ma su koyi da shi mafi wuya fiye da sauran yara na guda shekaru.

Amma duk da haka za su iya yi m aiki a cikin al'umma, kuma tare da wasu goyon baya da kuma dace aiki tare da wadannan yara da suka suna da kyau socialized a nan gaba.

Patau ciwo

A ciwo ne ƙasa da na kowa fiye da Down ciwo, amma da lahani na daban-daban irin su da irin wannan yaro sosai. Kusan 80% na yara tare da wannan ganewar asali mutu a cikin shekara 1 da haihuwa.

A shekarar 1960 ya yi karatu wannan anomaly da kuma gano kwayoyin Sanadin faɗuwarsu ta Klaus Patau, ko da yake zuwa da shi a 1657 ya bayyana ciwo T. Bartolini. A hadarin daga cikin wadannan cuta da aka ƙara a matan da suka haihu yaro bayan shekaru 31.

Wadannan yara suna da yawa nakasassun jiki a hade tare da m psychomotor ci gaba. Halayyar da ciwo:

• microcephaly.
• mahaukaci hannuwa, sau da yawa kafa karin yatsun kafa.
• low sa kunnuwa sababbu siffar.
• kogon lebe.
• short wuyansa.
• kunkuntar idanu.
• a fili "sunken" gada.
• lahani da kodan da kuma zuciya.
• kogon lebe ko palate.
• Pregnancy Akwai daya ne kawai cibiyarki jijiya.

A kananan yawan tsira jarirai likita taimako. Kuma za su iya har yanzu rayuwa a dogon lokaci. Amma nakasar anomalies har yanzu shafi yanayin rayuwa da kuma ta brevity.

Edwards ciwo

Trisomy 18 chromosome translocation a bango take kaiwa zuwa Edwards Syndrome. Wannan ciwo da aka kasa da aka sani. Tare da wannan ganewar asali yaro kawai suka tsira zuwa watanni shida. zabin yanayi dokar ba da damar zuwa girma ma tare da mahara nakasa.

A general, da dama daban-daban lahani a cikin ciwo Edwards - game da 150 ne ba malformations jini, zuciya, ciki gabobin. Ko da yaushe ba a cikin wadannan jarirai hypoplasia na cerebellum. Akwai anomalies na tsarin da yatsunsu. Sau da yawa sosai da irin wannan rarrabe anomaly bayyana a matsayin wata kafar deformity.

Abin da gwaje-gwaje ƙayyade munanan a utero?

Domin karyotype bincike a fetal zama dole a samu abu - fetal Kwayoyin.

Da dama da ƙididdiga. Haskaka yadda za ta auku.

1. chorionic villus daukan samfur. A analysis a 10 makonni. Wadannan villi - ne kai tsaye barbashi mahaifa. Wannan barbashi na nazarin halittu kayan za su gaya duk game da nan gaba na 'ya'yan itace.

2. Amniocentesis. Tare da allura da aka dauka 'yan fetal Kwayoyin, kuma ruwar. Suna dauka mafi yawa a mako 16 na ciki, da kuma bayan 'yan makonni, ma'auratan na iya samun cikakken bayani game da yaro ta jindadin.

A wannan bincike an aika zuwa uwaye da hadarin haihuwa yaro da nakasa karu. Yawancin kwayoyin analysis directed wadanda nau'i-nau'i a cikinsa:

1) sun kasance unexplainable abortions.

2) da biyu ya ba su iya yi ciki yaro.

3) a cikin iyali halarci haɗa dangi sadarwa yanayi.

Wadannan matasa iya samun Robertsonian translocations wasu chromosomes. Kuma haka ya kamata su ci gaba da yin bincike a kan wani karyotype su san abin da su ne chances don gudanar da haihu lafiya baby.